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Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Tolezano GC, Bastos GC, da Costa SS, Scliar MO, de Souza CFM, Van Der Linden H Jr, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AAL, Bertola DR, Krepischi ACV. Tolezano GC, et al. Among authors: rosenberg c. Mol Neurobiol. 2024 Jan 5. doi: 10.1007/s12035-023-03894-8. Online ahead of print. Mol Neurobiol. 2024. PMID: 38180615
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.
Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, de Araújo FT, Santos Souza L, Moreira DP, Hsia GSP, Bertollo EMG, Buck CB, da Costa SS, Fialho DM, de Vasconcelos FTGR, Brito LA, de Souza Fraga Machado LE, Ramos IC, Pereira LDV, Koiffmann CP, E Passos-Bueno MRDS, Oliveira Mendes TA, Krepischi ACV, Rosenberg C. Carvalho LML, et al. Among authors: rosenberg c. Gene. 2023 Jun 30;871:147424. doi: 10.1016/j.gene.2023.147424. Epub 2023 Apr 11. Gene. 2023. PMID: 37054903
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Mazzonetto PC, Villela D, da Costa SS, Krepischi ACV, Milanezi F, Migliavacca MP, Pierry PM, Bonaldi A, Almeida LGD, De Souza CA, Kroll JE, Paula MG, Guarischi-Sousa R, Scapulatempo-Neto C, Rosenberg C. Mazzonetto PC, et al. Among authors: rosenberg c. Ann Hum Genet. 2024 Mar;88(2):113-125. doi: 10.1111/ahg.12532. Epub 2023 Oct 9. Ann Hum Genet. 2024. PMID: 37807935
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Migliavacca MP, Sobreira J, Bermeo D, Gomes M, Alencar D, Sussuchi L, Souza CA, Silva JS, Kroll JE, Burger M, Guarischi-Sousa R, Villela D, Yamamoto GL, Milanezi F, Horigoshi N, Cesar RG, de Carvalho WB, Honjo RS, Bertola DR, Kim CA, de Souza L, Procianoy RS, Silveria RC, Rosenberg C, Giugliani R, Campana GA, Scapulatempo-Neto C, Sobreira N. Migliavacca MP, et al. Among authors: rosenberg c. Am J Med Genet A. 2024 Jun;194(6):e63544. doi: 10.1002/ajmg.a.63544. Epub 2024 Jan 23. Am J Med Genet A. 2024. PMID: 38258498
A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.
Costa SS, Fishman V, Pinheiro M, Rodrigueiro A, Sanseverino MT, Zielinsky P, Carvalho CMB, Rosenberg C, Krepischi ACV. Costa SS, et al. Among authors: rosenberg c. Res Sq [Preprint]. 2023 Dec 13:rs.3.rs-3740005. doi: 10.21203/rs.3.rs-3740005/v1. Res Sq. 2023. PMID: 38168413 Free PMC article. Updated. Preprint.
826 results